ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.76G>A (p.Ala26Thr)

gnomAD frequency: 0.00001  dbSNP: rs775643803
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001300552 SCV001489696 uncertain significance Hypertrophic cardiomyopathy 2022-09-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYH7 protein function. ClinVar contains an entry for this variant (Variation ID: 1003930). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. This variant is present in population databases (rs775643803, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 26 of the MYH7 protein (p.Ala26Thr).
Fulgent Genetics, Fulgent Genetics RCV002486159 SCV002792710 uncertain significance Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2021-10-01 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV004545888 SCV004228726 not provided MYH7-related disorder no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 07-17-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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